{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1316","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1314","results":[{"created":"2021-05-31T07:54:15.928478+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.102","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28980524; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PINK1","entity_type":"gene"},{"created":"2021-05-30T20:54:38.410316+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7730","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL3 as ready","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:54:38.400096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl3 has been classified as Green List (High Evidence).","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:54:30.902321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7730","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL3 were changed from  to Pseudohypoaldosteronism, type IID, MIM# 614495","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:54:09.727874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7729","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL3 were set to ","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:53:49.510122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7728","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:53:27.774305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7727","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:52:24.372199+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL3 as ready","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:52:24.362224+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl3 has been classified as Green List (High Evidence).","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:52:21.495964+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL3 were changed from  to Pseudohypoaldosteronism, type IID, MIM# 614495","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:51:49.324526+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL3 were set to ","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:51:22.266817+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:50:47.568611+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KLHL3","entity_type":"gene"},{"created":"2021-05-30T20:37:52.694174+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7727","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ5 as ready","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:37:52.684319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj5 has been classified as Green List (High Evidence).","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:37:38.244369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7727","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNJ5 as Green List (high evidence)","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:37:38.234430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj5 has been classified as Green List (High Evidence).","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:37:20.858699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7726","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ5 was added\ngene: KCNJ5 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ5 were set to 21311022; 22203740; 24420545; 24574546\nPhenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677\nReview for gene: KCNJ5 was set to GREEN\nAdded comment: Association with hyperaldosteronism: At least 5 unrelated families reported.\r\n\r\nAssociation with Long QT: disputed. \nSources: Expert Review","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:35:24.334108+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ5 as ready","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:35:24.323797+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj5 has been classified as Green List (High Evidence).","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:35:21.432100+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ5 were changed from  to Hyperaldosteronism, familial, type III, MIM# 613677","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:35:15.382323+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KCNJ5 from the panel","entity_name":null,"entity_type":null},{"created":"2021-05-30T20:34:52.444928+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ5 were set to ","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:34:16.943202+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:33:43.011034+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21311022, 22203740, 24420545, 24574546]; Phenotypes: Hyperaldosteronism, familial, type III, MIM# 613677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ5","entity_type":"gene"},{"created":"2021-05-30T20:29:08.129421+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7725","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD11B2 as ready","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:29:08.119437+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7725","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd11b2 has been classified as Green List (High Evidence).","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:28:53.203029+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7725","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD11B2 were changed from  to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:28:34.510014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7724","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD11B2 were set to ","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:27:16.763884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7723","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:26:55.348521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7722","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:26:21.631712+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD11B2 as ready","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:26:21.622568+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd11b2 has been classified as Green List (High Evidence).","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:25:47.262768+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD11B2 were changed from  to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:25:21.252680+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD11B2 were set to ","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:24:49.740980+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T20:24:19.947648+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD11B2","entity_type":"gene"},{"created":"2021-05-30T19:20:18.207274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7722","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN2 as ready","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:20:18.197010+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7722","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn2 has been classified as Green List (High Evidence).","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:20:10.155368+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN2 were changed from  to Leukoencephalopathy with ataxia, MIM# 615651; Hyperaldosteronism, familial, type II, MIM# 605635","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:19:51.738233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7721","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN2 were set to ","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:19:33.584900+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7720","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:19:13.368809+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7719","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29403011, 29403012, 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM# 615651, Hyperaldosteronism, familial, type II, MIM# 605635; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:15:53.497609+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN2 as ready","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:15:53.482193+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn2 has been classified as Green List (High Evidence).","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:15:50.565864+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN2 were changed from  to Hyperaldosteronism, familial, type II 605635","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:15:26.822034+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN2 were set to ","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:14:54.836229+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.\r\n\r\nAt least 6 unrelated families reported.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.\r\n\r\nAt least 6 unrelated families reported.\r\n\r\nNote bi-allelic variants cause a different phenotype.","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:14:21.115258+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.\r\n\r\nAt least 6 unrelated families reported.","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:14:06.928345+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN2: Changed publications: 29403011, 29403012","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:13:26.493581+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CLCN2: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:13:07.699966+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CLCN2","entity_type":"gene"},{"created":"2021-05-30T19:12:10.733520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7719","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1D as ready","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:12:10.717800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7719","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1d has been classified as Green List (High Evidence).","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:12:02.371639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7719","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1D were changed from  to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200; Sinoatrial node dysfunction and deafness, MIM# 614896","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:11:43.128186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7718","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1D were set to ","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:11:24.344006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7717","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:11:04.635124+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7716","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561, 21131953, 15357422, 22678062; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200, Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:08:45.979965+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1D as ready","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:08:45.970894+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1d has been classified as Green List (High Evidence).","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:08:39.195915+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1D were changed from  to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:08:14.969114+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1D were set to ","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:07:51.667646+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:07:25.539053+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-05-30T19:04:30.615854+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1H as ready","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:04:30.606333+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1h has been classified as Red List (Low Evidence).","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:04:26.803178+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1H were changed from  to Autism spectrum disorder","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:04:00.276343+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1H were set to ","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:03:38.548772+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:03:12.152247+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA1H as Red List (low evidence)","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:03:12.142413+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1h has been classified as Red List (Low Evidence).","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:01:49.175618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7716","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1H as ready","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:01:49.165659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7716","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1h has been classified as Green List (High Evidence).","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:01:42.291751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7716","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1H were changed from  to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:01:29.123976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7715","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1H were set to ","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:00:59.601146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7714","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T19:00:41.987934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7713","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027, MONDO:0014875; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:58:49.692992+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1H were changed from Hyperaldosteronism, familial, type IV MIM#617027 to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:57:27.454685+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1H as ready","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:57:27.441262+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1h has been classified as Green List (High Evidence).","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:57:24.789406+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1H were changed from  to Hyperaldosteronism, familial, type IV MIM#617027","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:57:00.331323+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1H were set to ","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T18:56:29.747509+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1H","entity_type":"gene"},{"created":"2021-05-30T17:36:36.172216+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis","entity_name":"COX16","entity_type":"gene"},{"created":"2021-05-30T17:36:06.558235+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX16","entity_type":"gene"},{"created":"2021-05-30T17:35:41.703765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7713","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM#\t619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis","entity_name":"COX16","entity_type":"gene"},{"created":"2021-05-30T17:35:16.255042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7712","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: None","entity_name":"COX16","entity_type":"gene"},{"created":"2021-05-30T17:30:43.697218+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3799","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-30T17:30:14.150032+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3798","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-30T17:29:57.682865+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-30T17:29:22.022060+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-30T17:29:02.421671+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7712","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-30T17:28:30.868314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7711","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability","entity_name":"NSF","entity_type":"gene"},{"created":"2021-05-29T21:14:10.797102+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IPO8 as ready","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:14:10.787231+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ipo8 has been classified as Green List (High Evidence).","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:14:07.410591+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IPO8 as Green List (high evidence)","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:14:07.401162+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ipo8 has been classified as Green List (High Evidence).","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:13:37.482215+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IPO8 was added\ngene: IPO8 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IPO8 were set to 34010604\nPhenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities\nReview for gene: IPO8 was set to GREEN\nAdded comment: 12 individuals from 9 unrelated families in a cohort with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression. \nSources: Literature","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:12:30.672628+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IPO8 were set to ","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-05-29T21:11:58.715267+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IPO8 as Green List (high evidence)","entity_name":"IPO8","entity_type":"gene"}]}